Variant NM_000492.4:c.935_937del


Variant details:
Name NM_000492.4:c.935_937del
Protein name NP_000483.3:p.(Phe312del)
Genomic name (hg19) chr7:g.117180219_117180221del    UCSC    
#Exon/intron exon 8
Legacy Name ΔF311
Class disease-causing
WT sequence TACTTCAATAGCTCAGCCTTCTTCT TCT CAGGGTTCTTTGTGGTGTTTTTATC
Mutant sequence TACTTCAATAGCTCAGCCTTCTTCT --- CAGGGTTCTTTGTGGTGTTTTTATC






External sources:
dbSNP
rs121908768
Not found




Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVA yesnoyesno
TEZ-IVA yesnoyesno
ELX-TEZ-IVA yesnoyesno


clinical and functional data are provided by Vertex



No patient found in CFTR-NGS catalogue


3 patients carrying this variant are reported in CFTR-France:

TOTAL NUMBER OF PATIENTS 3
CFTR-RD2
  • Other  2
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Other 864heterozygoteCF-causing - Trans
Other 5806heterozygoteCF-causing- Undef
Pending (NBS) 5299heterozygoteCF-causing- Undef


Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



            CFTR variants are clustered into five groups:
  • CF-causing: when in trans with another CF-causing mutation, will result in CF.
  • CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
  • Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
  • Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
  • VUS (Variant of unknown clinical significance): unclassified because of insufficient data.



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